Allele Registry

Canonical Allele Identifier: PA2830149660

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000530753

RCV002274066

ClinVar Variation:

476528

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Thr1375Arg	CA351192223 NM_057167.4:c.4124C>G